Search for modifier factors of adrenoleukodystrophy phenotypes using whole exome sequencing
| Project/Area Number |
15H06160
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | The University of Tokyo |
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Principal Investigator |
Matsukawa Takashi 東京大学, 医学部附属病院, 学術支援専門職員 (80755760)
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| Project Period (FY) |
2015-08-28 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 遺伝子表現型連関 / 副腎白質ジストロフィー / ABCD1 / 表現型修飾因子 / Exome解析 |
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| Outline of Final Research Achievements |
Adrenoleukodystrophy (ALD) is an X-linked recessive neurodegenerative disorder caused by ABCD1 gene. We searched for modifier factors of various ALD phenotypes using whole exome sequencing. We accumulated eighty one ALD patients' DNA. We analyzed genes localized in the peroxisome where ABCD1 gene product is also localized. We found that there were many cases that have novel variants of genes localized in the peroxisome. Our findings will become the base for the elucidation of modifier factors of various ALD phenotypes.
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Report
(3 results)
Research Products
(6 results)
